Features include very common findings: Cleft palate; and common findings: Preaxial hand polydactyly, Flared metaphysis, Short stature, and Brachydactyly and others. 72 total HPO annotations.

NEK1 encodes NIMA related kinase 1 (1,258 aa). Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Involved in DNA damage checkpoint control and for proper DNA damage repair. Highest expression in Nerve Tibial (63.9 TPM) and Testis (14.3 TPM).

Orofaciodigital syndrome type II is associated with mutations in the NEK1 gene on chromosome 4.

The NEK1 protein participates in ATR activation at DNA DSBs and ME1 tetramerizes pathways.

NEK1 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Tyrosine Kinase categories) with score 0.0.

Genetic testing for NEK1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature, 31 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for orofaciodigital syndrome type II.

2 publications have been identified in PubMed for orofaciodigital syndrome type II. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Hannes L (2024). [PMID: 38158857](https://pubmed.ncbi.nlm.nih.gov/38158857/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Basic Science / Preclinical]

• Tiwari N (2024). [PMID: 38646336](https://pubmed.ncbi.nlm.nih.gov/38646336/). *Cureus*. [Case Report / Case Series]